SMDP2
MCID: SRF003
MIFTS: 36

Surfactant Metabolism Dysfunction, Pulmonary, 2 (SMDP2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards integrated aliases for Surfactant Metabolism Dysfunction, Pulmonary, 2:

Name: Surfactant Metabolism Dysfunction, Pulmonary, 2 58 30 13 6 74
Interstitial Lung Disease Due to Surfactant Protein C Deficiency 58 60 76
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency 58 76
Smdp2 58 76
Chronic Respiratory Distress with Surfactant Metabolism Deficiency 60
Surfactant Metabolism Dysfunction, Pulmonary, Type 2 41
Interstitial Lung Disease Due to Sp-C Deficiency 60
Pulmonary Alveolar Proteinosis, Congenital, 2 58
Pulmonary Surfactant Metabolism Dysfunction 2 76
Congenital Pulmonary Alveolar Proteinosis 2 76
Pap 76

Characteristics:

Orphanet epidemiological data:

60
chronic respiratory distress with surfactant metabolism deficiency
Inheritance: Autosomal dominant; Age of onset: All ages;
interstitial lung disease due to sp-c deficiency
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
reduced penetrance
progressive disease
occurs in full-term newborns
highly variable pathologic phenotype
onset in the first months of life
respiratory distress may be precipitated by viral respiratory infection
some patients may live to adulthood
favorable response to hydroxychloroquine treatment


HPO:

33
surfactant metabolism dysfunction, pulmonary, 2:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


Summaries for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot : 76 Pulmonary surfactant metabolism dysfunction 2: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.

MalaCards based summary : Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as interstitial lung disease due to surfactant protein c deficiency, is related to pulmonary alveolar proteinosis, acquired and surfactant metabolism dysfunction, pulmonary, 4, and has symptoms including dyspnea, respiratory distress and cyanosis. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include cervix, prostate and heart, and related phenotypes are failure to thrive and recurrent respiratory infections

OMIM : 58 Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). (610913)

Related Diseases for Surfactant Metabolism Dysfunction, Pulmonary, 2

Diseases in the Surfactant Metabolism Dysfunction, Pulmonary, 2 family:

Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 4
Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 5

Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 pulmonary alveolar proteinosis, acquired 12.0
2 surfactant metabolism dysfunction, pulmonary, 4 11.9
3 surfactant metabolism dysfunction, pulmonary, 5 11.8
4 surfactant metabolism dysfunction, pulmonary, 1 11.7
5 pulmonary alveolar proteinosis 11.5
6 cervical cancer 11.5
7 polydactyly, postaxial, type a1 11.3
8 vaginal cancer 11.3
9 secondary pulmonary alveolar proteinosis 11.3
10 pituitary adenoma 1, multiple types 11.2
11 brachyolmia type 1, toledo type 11.0
12 surfactant metabolism dysfunction, pulmonary, 3 11.0
13 interstitial lung and liver disease 11.0
14 mycoplasma pneumoniae pneumonia 11.0
15 cervix disease 11.0
16 congenital pulmonary alveolar proteinosis 11.0
17 hereditary pulmonary alveolar proteinosis 11.0
18 cervical intraepithelial neoplasia 10.5
19 adenocarcinoma 10.4
20 pancreatitis 10.3
21 prostate cancer 10.3
22 sleep apnea 10.3
23 squamous cell papilloma 10.3
24 papilloma 10.3
25 bacterial vaginosis 10.2
26 ankyloblepharon filiforme adnatum and cleft palate 10.2
27 prostate cancer, hereditary, 8 10.2
28 prostate cancer, hereditary, 6 10.2
29 chlamydia 10.2
30 interstitial lung disease 10.2
31 protein c deficiency 10.2
32 lung disease 10.2
33 suppressor of tumorigenicity 3 10.1
34 adenocarcinoma in situ 10.1
35 lymphoma 10.1
36 anus cancer 10.1
37 cystic fibrosis 10.0
38 breast reconstruction 10.0
39 endocervical adenocarcinoma 10.0
40 pyelonephritis 10.0
41 acute pancreatitis 10.0
42 antiphospholipid syndrome 10.0
43 endometrial cancer 10.0
44 small cell carcinoma 10.0
45 anogenital venereal wart 10.0
46 squamous cell carcinoma 10.0
47 vaginitis 10.0
48 endometrial adenocarcinoma 10.0
49 cervical adenocarcinoma 10.0
50 achondroplasia 9.9

Graphical network of the top 20 diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2:



Diseases related to Surfactant Metabolism Dysfunction, Pulmonary, 2

Symptoms & Phenotypes for Surfactant Metabolism Dysfunction, Pulmonary, 2

Human phenotypes related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 recurrent respiratory infections 33 HP:0002205
3 respiratory distress 33 HP:0002098
4 tachypnea 33 HP:0002789
5 cyanosis 33 HP:0000961
6 interstitial pneumonitis 33 HP:0006515
7 alveolar proteinosis 33 HP:0006517
8 clubbing 33 HP:0001217
9 tubulointerstitial fibrosis 33 HP:0005576

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Skin Nails Hair Skin:
cyanosis

Skeletal Hands:
digital clubbing

Respiratory:
dyspnea
respiratory distress
tachypnea

Respiratory Lung:
alveolar proteinosis
interstitial fibrosis
alveoli filled with granular or foamy surfactant protein exudate
alveoli contain desquamated type ii pneumocytes and macrophages
type ii pneumocyte hyperplasia
more
Growth Weight:
poor weight gain in infancy

Clinical features from OMIM:

610913

UMLS symptoms related to Surfactant Metabolism Dysfunction, Pulmonary, 2:


dyspnea, respiratory distress, cyanosis

Drugs & Therapeutics for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search Clinical Trials , NIH Clinical Center for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic Tests for Surfactant Metabolism Dysfunction, Pulmonary, 2

Genetic tests related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

# Genetic test Affiliating Genes
1 Surfactant Metabolism Dysfunction, Pulmonary, 2 30 SFTPC

Anatomical Context for Surfactant Metabolism Dysfunction, Pulmonary, 2

MalaCards organs/tissues related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

42
Cervix, Prostate, Heart, Pituitary

Publications for Surfactant Metabolism Dysfunction, Pulmonary, 2

Articles related to Surfactant Metabolism Dysfunction, Pulmonary, 2:

(show all 13)
# Title Authors Year
1
Childhood interstitial lung disease due to surfactant protein C deficiency: frequent use and costs of hospital services for a single case in Australia. ( 24642012 )
2014
2
New surfactant protein C gene mutations associated with diffuse lung disease. ( 19443464 )
2009
3
Hydroxychloroquine and surfactant protein C deficiency. ( 15647591 )
2005
4
Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. ( 15557112 )
2005
5
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. ( 15039969 )
2004
6
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. ( 15293602 )
2004
7
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. ( 15572558 )
2004
8
Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. ( 12538769 )
2003
9
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. ( 11991887 )
2002
10
Mutations in the surfactant protein C gene associated with interstitial lung disease. ( 11893657 )
2002
11
A mutation in the surfactant protein C gene associated with familial interstitial lung disease. ( 11207353 )
2001
12
Familial fibrocystic pulmonary dysplasia: a new case in a known affected family. ( 5942662 )
1966
13
Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. ( 13817571 )
1959

Variations for Surfactant Metabolism Dysfunction, Pulmonary, 2

UniProtKB/Swiss-Prot genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

76
# Symbol AA change Variation ID SNP ID
1 SFTPC p.Ile73Thr VAR_026753
2 SFTPC p.Ala116Asp VAR_026754
3 SFTPC p.Arg167Gln VAR_026755 rs34957318
4 SFTPC p.Leu188Gln VAR_026756
5 SFTPC p.Glu66Lys VAR_036855

ClinVar genetic disease variations for Surfactant Metabolism Dysfunction, Pulmonary, 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SFTPC SFTPC, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
2 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh37 Chromosome 8, 22020609: 22020609
3 SFTPC NM_003018.3(SFTPC): c.218T> C (p.Ile73Thr) single nucleotide variant Pathogenic rs121917834 GRCh38 Chromosome 8, 22163096: 22163096
4 SFTPC NM_003018.3(SFTPC): c.500G> A (p.Arg167Gln) single nucleotide variant Likely benign rs34957318 GRCh37 Chromosome 8, 22021460: 22021460
5 SFTPC NM_003018.3(SFTPC): c.500G> A (p.Arg167Gln) single nucleotide variant Likely benign rs34957318 GRCh38 Chromosome 8, 22163947: 22163947
6 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh37 Chromosome 8, 22021523: 22021523
7 SFTPC NM_003018.3(SFTPC): c.563T> A (p.Leu188Gln) single nucleotide variant Pathogenic rs121917835 GRCh38 Chromosome 8, 22164010: 22164010
8 SFTPC SFTPC, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
9 SFTPC NM_003018.3(SFTPC): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs121918559 GRCh37 Chromosome 8, 22020971: 22020971
10 SFTPC NM_003018.3(SFTPC): c.347C> A (p.Ala116Asp) single nucleotide variant Pathogenic rs121918559 GRCh38 Chromosome 8, 22163458: 22163458
11 SFTPC NM_003018.3(SFTPC): c.196G> A (p.Glu66Lys) single nucleotide variant Pathogenic rs121917836 GRCh37 Chromosome 8, 22020240: 22020240
12 SFTPC NM_003018.3(SFTPC): c.196G> A (p.Glu66Lys) single nucleotide variant Pathogenic rs121917836 GRCh38 Chromosome 8, 22162727: 22162727
13 SFTPC NM_003018.3(SFTPC): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs121918560 GRCh37 Chromosome 8, 22021541: 22021541
14 SFTPC NM_003018.3(SFTPC): c.581T> C (p.Leu194Pro) single nucleotide variant Pathogenic rs121918560 GRCh38 Chromosome 8, 22164028: 22164028
15 SFTPC NM_003018.3(SFTPC): c.115G> T (p.Val39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183533911 GRCh37 Chromosome 8, 22020159: 22020159
16 SFTPC NM_003018.3(SFTPC): c.115G> T (p.Val39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183533911 GRCh38 Chromosome 8, 22162646: 22162646

Expression for Surfactant Metabolism Dysfunction, Pulmonary, 2

Search GEO for disease gene expression data for Surfactant Metabolism Dysfunction, Pulmonary, 2.

Pathways for Surfactant Metabolism Dysfunction, Pulmonary, 2

GO Terms for Surfactant Metabolism Dysfunction, Pulmonary, 2

Molecular functions related to Surfactant Metabolism Dysfunction, Pulmonary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 BMP1 SFTPC

Sources for Surfactant Metabolism Dysfunction, Pulmonary, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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